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| Adult onset neurodegenerative disorder v8.7 | SPTLC2 | Achchuthan Shanmugasundram Classified gene: SPTLC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v8.7 | SPTLC2 | Achchuthan Shanmugasundram Gene: sptlc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v8.6 | SPTLC2 | Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: SPTLC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v8.3 | SPTLC2 | Ida Ertmanska commented on gene: SPTLC2: Comment on list classification: There are at least 10 unrelated patients reported with juvenile onset ALS with monoallelic variants in SPTLC2 (9 de novo, 1 familial case with demonstrated autosomal dominant inheritance). Based on the available evidence, this gene should be rated Green for Adult onset neurodegenerative disorder. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v8.3 | SPTLC2 |
Ida Ertmanska changed review comment from: Monoallelic variants in SPTLC2 have been associated with juvenile-onset ;amyotrophic lateral sclerosis: PMID: 38041679 Syeda 2024 - 6 unrelated patients with a recurrent de novo variant p.Glu260Lys PMID: 38316966 Naruse 2024 - 2 unrelated families - p.Ala71Val, p.Met68Arg PMID: 38041684 Dohrn 2024 - 2 unrelated patients with the same de novo variant p.Met68Argetc Sources: Literature; to: Monoallelic variants in SPTLC2 have been associated with juvenile-onset amyotrophic lateral sclerosis: PMID: 38041679 Syeda 2024 - 6 unrelated patients with a recurrent de novo variant p.Glu260Lys - trio WES/WGS. Phenotype: early-childhood-onset spasticity, followed by rapidly progressive weakness involving upper and lower extremities, bulbar muscles, tongue fasciculations and eventual respiratory insufficiency. Onset: congenital - 4 years of age. PMID: 38316966 Naruse 2024 - 2 unrelated Japanese families with early-onset ALS - p.Ala71Val, p.Met68Arg. Method: WES. Onset of symptoms: 22-31 years. PMID: 38041684 Dohrn 2024 - 2 unrelated patients (one African American and one Turkish-Bulgarian) with the same de novo variant p.Met68Arg. Childhood onset. Method: WGS/WES +Sanger confirmation. SPTLC2 is associated with Neuropathy, hereditary sensory and autonomic, type IC in OMIM (613640) - accessed 13th Oct 2025). |
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| Adult onset neurodegenerative disorder v8.3 | SPTLC2 |
Ida Ertmanska gene: SPTLC2 was added gene: SPTLC2 was added to Adult onset neurodegenerative disorder. Sources: Literature Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPTLC2 were set to 38041684; 38041679; 38316966 Phenotypes for gene: SPTLC2 were set to Neuropathy, hereditary sensory and autonomic, type IC, OMIM:613640; amyotrophic lateral sclerosis 27, juvenile, MONDO:0859529 Review for gene: SPTLC2 was set to GREEN Added comment: Monoallelic variants in SPTLC2 have been associated with juvenile-onset ;amyotrophic lateral sclerosis: PMID: 38041679 Syeda 2024 - 6 unrelated patients with a recurrent de novo variant p.Glu260Lys PMID: 38316966 Naruse 2024 - 2 unrelated families - p.Ala71Val, p.Met68Arg PMID: 38041684 Dohrn 2024 - 2 unrelated patients with the same de novo variant p.Met68Argetc Sources: Literature |
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